ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827435347
Gene: SLC6A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001759928
RCV003762967
ClinVar Variation:
833942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335179.1:p.Ala334Ser
CA351790601
NM_001348250.2:c.1000G>T